MCID: APP015
MIFTS: 50

Apparent Mineralocorticoid Excess malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases, Metabolic diseases

Aliases & Classifications for Apparent Mineralocorticoid Excess

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Apparent Mineralocorticoid Excess:

Name: Apparent Mineralocorticoid Excess 50 46 52 68 12 66
Cortisol 11-Beta-Ketoreductase Deficiency 46 23 68 66
Apparent Mineralocorticoid Excess Syndrome 11 23 13
Ame 46 23 68
Syndrome of Apparent Mineralocorticoid Excess 11 25
 
Mineralocorticoid Excess Syndrome, Apparent 37 66
Ame1 23 68
11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2 52
Ulick Syndrome 52
Ame 1 46

Characteristics:

Orphanet epidemiological data:

52
apparent mineralocorticoid excess:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

62
apparent mineralocorticoid excess:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity


Classifications:



External Ids:

OMIM50 218030
Disease Ontology11 DOID:4367
MeSH37 D043204
NCIt43 C123231
Orphanet52 ORPHA320
SNOMED-CT60 237770005
ICD10 via Orphanet29 E26.1
MESH via Orphanet38 C537422, D043204
UMLS via Orphanet67 C0342488, C2936861
MedGen35 C2936861

Summaries for Apparent Mineralocorticoid Excess

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OMIM:50 Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low... (218030) more...

MalaCards based summary: Apparent Mineralocorticoid Excess, also known as cortisol 11-beta-ketoreductase deficiency, is related to ablepharon-macrostomia syndrome and acute mountain sickness, and has symptoms including hypertension, hypertensive retinopathy and failure to thrive. An important gene associated with Apparent Mineralocorticoid Excess is HSD11B2 (Hydroxysteroid 11-Beta Dehydrogenase 2), and among its related pathways are Aldosterone-regulated sodium reabsorption and Prostaglandin Synthesis and Regulation. Affiliated tissues include kidney, and related mouse phenotypes are muscle and behavior/neurological.

UniProtKB/Swiss-Prot:68 Apparent mineralocorticoid excess: An autosomal recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis.

Wikipedia:69 Apparent mineralocorticoid excess (AME) is an autosomal recessive disorder causing hypertension (high... more...

Related Diseases for Apparent Mineralocorticoid Excess

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Diseases related to Apparent Mineralocorticoid Excess via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 185)
idRelated DiseaseScoreTop Affiliating Genes
1ablepharon-macrostomia syndrome11.4
2acute mountain sickness10.6
3dystonia 2510.6NR3C2, REN
4paget disease of bone 410.5NR3C1, NR3C2
5antiphospholipid syndrome10.4HSD11B2, NR3C2, REN
6gallbladder adenoma10.3POMC, REN
7corpus luteum cyst10.3HSD11B2, POMC
8dressler's syndrome10.3POMC, REN
9priapism10.2HSD11B1, HSD11B2, NR3C1
10glioma susceptibility 110.2HSD11B2, POMC
11prosopagnosia10.2NR3C1, POMC
12actinic lichen planus10.2POMC, REN
13neurilemmoma of the pleura10.2POMC, REN
14cold-induced sweating syndrome 210.2NR3C1, POMC
15craniopharyngioma10.2POMC, REN
16retinal vein occlusion10.2ATP6V0A4, NR3C2, REN
17norwegian scabies10.1ATP6V0A4, POMC
18adrenal carcinoma10.1HSD11B1, POMC
19chancroid10.1POMC, REN
20first-degree atrioventricular block10.1POMC, REN
21hypoglycemic coma10.1NR3C1, POMC
22vestibular gland benign neoplasm10.1POMC, REN
23liddle syndrome10.1
24hypothyroidism10.1
25benign shuddering attacks10.0HSD11B2, POMC, REN
26broad ligament malignant neoplasm10.0REN, XK
27central nervous system angiosarcoma10.0HSD11B2, POMC, REN
28cardiovascular organ benign neoplasm10.0NR3C2, POMC, REN
29collecting duct carcinoma10.0NR3C2, POMC, REN
30aggressive systemic mastocytosis10.0REN, XK
31pituitary apoplexy10.0PIK3C2A, XK
32bronchiectasis with or without elevated sweat chloride 310.0HSD11B2, NR3C1, NR3C2, REN
33episodic kinesigenic dyskinesia 210.0CLCNKB, REN
34prostatitis10.0
35monocular esotropia9.9ATP6V0A4, XK
36persistent hyperplastic primary vitreous9.9NR3C1, POMC
37cystic fibrosis9.9
38pseudohypoaldosteronism9.9
39congenital adrenal hyperplasia9.9
40nephrocalcinosis9.9
41blepharitis9.9POMC, REN
42dysplastic nevus syndrome9.9
43hemosiderosis9.9
44leukemia9.9
45subvalvular aortic stenosis9.8ATP6V0A4, XK
46cataract9.8
47dwarfism9.8
48vasculogenic impotence9.8HSD17B6, POMC, REN
49adrenal cortex disease9.8POMC, REN
50obesity9.8

Graphical network of the top 20 diseases related to Apparent Mineralocorticoid Excess:



Diseases related to apparent mineralocorticoid excess

Symptoms for Apparent Mineralocorticoid Excess

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Symptoms by clinical synopsis from OMIM:

218030

Clinical features from OMIM:

218030

HPO human phenotypes related to Apparent Mineralocorticoid Excess:

(show all 10)
id Description Frequency HPO Source Accession
1 hypertension HP:0000822
2 hypertensive retinopathy HP:0001095
3 failure to thrive HP:0001508
4 small for gestational age HP:0001518
5 hypokalemia HP:0002900
6 decreased circulating aldosterone level HP:0002924
7 decreased circulating renin level HP:0003351
8 hypoaldosteronism HP:0004319
9 short stature HP:0004322
10 metabolic alkalosis HP:0200114

Drugs & Therapeutics for Apparent Mineralocorticoid Excess

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Drugs for Apparent Mineralocorticoid Excess (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
glycyrrhetinic acidPhase 2, Phase 39471-53-418526330
Synonyms:
18b-Glycyrrhetic acid
18b-Glycyrrhetinic acid
18b-Glycyrrhtinic acid
3-Glycyrrhetinic acid
3-Hydroxy-11-oxoolean-12-en-29-oate
3-Hydroxy-11-oxoolean-12-en-29-oic acid
3-Hydroxy-11-oxoolean-12-en-29-oic acid (ACD/Name 4.0)
3b-Hydroxy-11-oxo-Olean-12-en-30-oate
3b-Hydroxy-11-oxo-Olean-12-en-30-oic acid
3b-Hydroxy-11-oxoolean-12-en-30-oate
 
3b-Hydroxy-11-oxoolean-12-en-30-oic acid
Biosone
Enoxolone
Glycyrrhetic acid
Glycyrrhetin
Glycyrrhetinate
Glycyrrhetinic acid
Uralenic acid
a-Glycyrrhetinic acid
alpha-Glycyrrhetinic acid
b-Glycyrrhetic acid
beta-Glycyrrhetic acid

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Role of Mineralocorticoid Receptors in Vascular FunctionCompletedNCT00759525Phase 2, Phase 3
2Natural History of Apparent Mineralocorticoid Excess SyndromeCompletedNCT00474942

Search NIH Clinical Center for Apparent Mineralocorticoid Excess


Cochrane evidence based reviews: mineralocorticoid excess syndrome, apparent

Genetic Tests for Apparent Mineralocorticoid Excess

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Genetic tests related to Apparent Mineralocorticoid Excess:

id Genetic test Affiliating Genes
1 Apparent Mineralocorticoid Excess25
2 Apparent Mineralocorticoid Excess Syndrome23 HSD11B2

Anatomical Context for Apparent Mineralocorticoid Excess

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MalaCards organs/tissues related to Apparent Mineralocorticoid Excess:

34
Kidney

Animal Models for Apparent Mineralocorticoid Excess or affiliated genes

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MGI Mouse Phenotypes related to Apparent Mineralocorticoid Excess:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6HSD11B1, HSD11B2, NR3C1, NR3C2, REN, XK
2MP:00053867.8ATP6V0A4, HSD11B1, HSD11B2, NR3C1, NR3C2, POMC
3MP:00053857.6HSD11B1, HSD11B2, NR3C1, NR3C2, PIK3C2A, POMC
4MP:00053977.5HSD11B1, NR3C1, NR3C2, PIK3C2A, POMC, REN
5MP:00036317.3HSD11B1, NR3C1, NR3C2, PIK3C2A, POMC, REN
6MP:00053677.1ATP6V0A4, CLCNKB, HSD11B2, NR3C1, NR3C2, PIK3C2A
7MP:00053765.7ATP6V0A4, CLCNKB, HSD11B1, HSD11B2, NR3C1, NR3C2

Publications for Apparent Mineralocorticoid Excess

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Articles related to Apparent Mineralocorticoid Excess:

(show top 50)    (show all 59)
idTitleAuthorsYear
1
A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred. (27526338)
2016
2
Apparent mineralocorticoid excess. (26956190)
2016
3
Apparent mineralocorticoid excess and the long term treatment of genetic hypertension. (26892095)
2016
4
Apparent Mineralocorticoid Excess Syndrome: A Case of Resistant Hypertension From Licorice Tea Consumption. (27251761)
2016
5
Apparent Mineralocorticoid Excess by a Novel Mutation and Epigenetic Modulation by HSD11B2 Promoter Methylation. (26126204)
2015
6
Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess. (25593612)
2015
7
A case of iatrogenic Cushing syndrome and apparent mineralocorticoid excess presenting with accelerated hypertension and proteinuria. (25201428)
2014
8
Apparent Mineralocorticoid Excess Caused by a Novel Mutation in 11-I^ Hydroxysteroid Dehydrogenase Type 2 Enzyme: Its Genetics and Response to Therapy. (24936560)
2014
9
Remission of hypertension and electrolyte abnormalities following renal transplantation in a patient with apparent mineralocorticoid excess well documented throughout childhood. (23945123)
2014
10
Apparent mineralocorticoid excess (AME) syndrome. (23665601)
2013
11
Apparent mineralocorticoid excess syndrome: report of one family with three affected children. (23329753)
2012
12
Apparent mineralocorticoid excess - update. (21691952)
2011
13
Familial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess. (21042587)
2010
14
Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene. (19169481)
2008
15
A switch in the mechanism of hypertension in the syndrome of apparent mineralocorticoid excess. (18032795)
2008
16
Apparent mineralocorticoid excess manifested in an elderly patient with hypothyroidism. (17516565)
2007
17
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess. (17314322)
2007
18
Apparent mineralocorticoid excess manifested in an elderly patient with hypothyroidism. (17198920)
2007
19
In vitro expression studies of a novel mutation delta299 in a patient affected with apparent mineralocorticoid excess. (15126515)
2004
20
Distinction between Liddle syndrome and apparent mineralocorticoid excess. (14625721)
2004
21
Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population. (15134813)
2004
22
Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene. (12860834)
2003
23
The distinction between Liddle syndrome and apparent mineralocorticoid excess. (12759812)
2003
24
Congenital deficiency of 11beta-hydroxysteroid dehydrogenase (apparent mineralocorticoid excess syndrome): diagnostic value of urinary free cortisol and cortisone. (11227727)
2001
25
Apparent mineralocorticoid excess. (11306334)
2001
26
Syndrome of apparent mineralocorticoid excess caused by a deficiency of 11 beta-hydroxysteroid dehydrogenase: clinical and genetic study in a Chilean family followed for 19 years]. (10883518)
2000
27
Liquorice-induced sodium retention. Merely an acquired condition of apparent mineralocorticoid excess? A case report. (11202632)
2000
28
Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess. (11154148)
2000
29
Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. (10536001)
1999
30
Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess. (10489390)
1999
31
Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess. (10523339)
1999
32
Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess. (9661590)
1998
33
The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess. (9851783)
1998
34
Molecular basis for hypertension in the 'type II variant' of apparent mineralocorticoid excess. (9683587)
1998
35
Apparent mineralocorticoid excess in a Brazilian kindred: hypertension in the heterozygote state. (9431844)
1997
36
A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. (9398712)
1997
37
11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. (9034789)
1997
38
A case of apparent mineralocorticoid excess caused by type 2 11 beta- hydroxysteroid dehydrogenase deficiency]. (9404418)
1997
39
Apparent mineralocorticoid excess: genotype is correlated with biochemical phenotype. (8641723)
1996
40
Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11 beta-hydroxysteroid dehydrogenase type 2 gene. (8538347)
1996
41
Point mutations abolish 11 beta-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess. (8793850)
1996
42
Apparent mineralocorticoid excess: type I and type II. (8732999)
1996
43
Apparent mineralocorticoid excess due to 11 beta-hydroxysteroid dehydrogenase deficiency: a possible cause of intrauterine growth retardation. (8729536)
1996
44
The R337C mutation generates a high Km 11 beta-hydroxysteroid dehydrogenase type II enzyme in a family with apparent mineralocorticoid excess. (7593456)
1995
45
Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. (7593417)
1995
46
Apparent mineralocorticoid excess, 11beta hydroxysteroid dehydrogenase and aldosterone action Closing one loop, opening another. (18406708)
1995
47
A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. (7608290)
1995
48
Defects in the HSD11 gene encoding 11 beta-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency. (8370690)
1993
49
Investigation of the mechanism of hypertension in apparent mineralocorticoid excess. (8393954)
1993
50
Apparent mineralocorticoid excess, pseudohypoaldosteronism, and urinary electrolyte excretion: toward a redefinition of mineralocorticoid action. (2172062)
1990

Variations for Apparent Mineralocorticoid Excess

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UniProtKB/Swiss-Prot genetic disease variations for Apparent Mineralocorticoid Excess:

68 (show all 14)
id Symbol AA change Variation ID SNP ID
1HSD11B2p.Arg208CysVAR_006958rs121917780
2HSD11B2p.Arg213CysVAR_006959rs28934591
3HSD11B2p.Leu179ArgVAR_015635
4HSD11B2p.Ser180PheVAR_015636
5HSD11B2p.Arg186CysVAR_015637rs768507002
6HSD11B2p.Arg208HisVAR_015638rs28934592
7HSD11B2p.Ala237ValVAR_015640
8HSD11B2p.Asp244AsnVAR_015641
9HSD11B2p.Leu250ArgVAR_015642
10HSD11B2p.Arg279CysVAR_015644rs28934594
11HSD11B2p.Ala328ValVAR_015645
12HSD11B2p.Tyr338HisVAR_015646rs387907117
13HSD11B2p.Asp223AsnVAR_066514rs121917833
14HSD11B2p.Arg337CysVAR_066515rs121917781

Clinvar genetic disease variations for Apparent Mineralocorticoid Excess:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1HSD11B2NM_000196.3(HSD11B2): c.622C> T (p.Arg208Cys)single nucleotide variantPathogenicrs121917780GRCh37Chr 16, 67470003: 67470003
2HSD11B2NM_000196.3(HSD11B2): c.637C> T (p.Arg213Cys)single nucleotide variantPathogenicrs28934591GRCh37Chr 16, 67470018: 67470018
3HSD11B2NM_000196.3(HSD11B2): c.1009C> T (p.Arg337Cys)single nucleotide variantPathogenicrs121917781GRCh37Chr 16, 67470697: 67470697
4HSD11B2NM_000196.3(HSD11B2): c.623G> A (p.Arg208His)single nucleotide variantPathogenicrs28934592GRCh37Chr 16, 67470004: 67470004
5HSD11B2NM_000196.3(HSD11B2): c.1010_1012delGCT (p.Arg337_Tyr338delinsHis)deletionPathogenicrs397509434GRCh37Chr 16, 67470698: 67470700
6HSD11B2NM_000196.3(HSD11B2): c.835C> T (p.Arg279Cys)single nucleotide variantPathogenicrs28934594GRCh37Chr 16, 67470523: 67470523
7HSD11B2NM_000196.3(HSD11B2): c.667G> A (p.Asp223Asn)single nucleotide variantPathogenicrs121917833GRCh37Chr 16, 67470154: 67470154
8HSD11B2NM_000196.3(HSD11B2): c.895_897delTAC (p.Tyr299del)deletionPathogenicrs794726670GRCh37Chr 16, 67470583: 67470585
9HSD11B2NM_000196.3(HSD11B2): c.664+14C> Tsingle nucleotide variantPathogenicrs376023420GRCh37Chr 16, 67470059: 67470059
10HSD11B2NM_000196.3(HSD11B2): c.1012T> C (p.Tyr338His)single nucleotide variantPathogenicrs387907117GRCh37Chr 16, 67470700: 67470700
11HSD11B2NM_000196.3(HSD11B2): c.77_78delCA (p.Ser26Terfs)deletionPathogenicrs794726684GRCh37Chr 16, 67465228: 67465229

Expression for genes affiliated with Apparent Mineralocorticoid Excess

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Search GEO for disease gene expression data for Apparent Mineralocorticoid Excess.

Pathways for genes affiliated with Apparent Mineralocorticoid Excess

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GO Terms for genes affiliated with Apparent Mineralocorticoid Excess

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Biological processes related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glucocorticoid biosynthetic processGO:00067049.8HSD11B1, HSD11B2
2excretionGO:00075889.7ATP6V0A4, CLCNKB

Molecular functions related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
111-beta-hydroxysteroid dehydrogenase [NAD(P)] activityGO:000384510.2HSD11B1, HSD11B2
2steroid bindingGO:00054969.5HSD11B2, NR3C1, NR3C2

Sources for Apparent Mineralocorticoid Excess

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet